ZDHHC6
Zinc Finger DHHC-Type Palmitoyltransferase 6
Gene Information Card
| Symbol | ZDHHC6 |
|---|---|
| Full Name | Zinc Finger DHHC-Type Palmitoyltransferase 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 10q25.3 |
| NCBI Gene ID | 64429 ncbi.nlm.nih.gov/gene/64429 |
| Ensembl ID | ENSG00000120057 |
| UniProt ID | Q9H6R6 |
| OMIM ID | 617865 |
| HGNC ID | 20759 |
| Aliases | DHHC6, FLJ12671 |
Description
ZDHHC6 encodes a member of the DHHC (Asp-His-His-Cys) family of palmitoyltransferases. The enzyme localizes to the endoplasmic reticulum and catalyzes the addition of palmitate to cysteine residues of substrate proteins, a critical post-translational modification that regulates protein trafficking, stability, and function. ZDHHC6 is involved in palmitoylation of proteins such as calnexin and the inositol 1,4,5-trisphosphate receptor, impacting calcium homeostasis and ER stress responses.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cancer (various types) | Altered palmitoylation of oncogenic proteins may promote tumor growth; ZDHHC6 overexpression observed in some cancers. | COSMIC; NCBI Gene |
| Neurodevelopmental disorders | Potential role via palmitoylation of synaptic proteins; limited direct evidence. | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Brain | 5.2 | Low |
| Liver | 8.7 | Medium |
| Kidney | 6.1 | Low |
| Heart | 4.3 | Low |
| Testis | 12.5 | Medium |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK293 | 9.8 | Moderate expression |
| HeLa | 7.4 | Moderate expression |
| HepG2 | 11.2 | Moderate expression |
| K562 | 3.1 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1015C>T (p.Arg339Trp) | Missense | <0.01% | Unknown functional impact; rare population variant |
| c.1246G>A (p.Gly416Arg) | Missense | <0.01% | Predicted damaging by in silico tools; no clinical association |
Mutation functional classification
Loss of Function (LOF)
No confirmed loss-of-function mutations reported in human disease.
Gain of Function (GOF)
No confirmed gain-of-function mutations reported.
Dominant Negative (DN)
No evidence for dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
| • Palmitoyltransferase activity | • Protein palmitoylation |
| • Endoplasmic reticulum membrane | • Zinc ion binding |
| • Transferase activity |
Pathways
• Protein palmitoylation
• Endoplasmic reticulum protein processing
Protein Summary
ZDHHC6 is a 411-amino acid multi-pass membrane protein with a conserved DHHC domain essential for palmitoyltransferase activity. It resides in the endoplasmic reticulum and mediates S-palmitoylation of substrates including calnexin and IP3 receptors, influencing calcium signaling and ER homeostasis. The protein contains four transmembrane helices and a zinc finger-like DHHC motif.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ZDHHC6 Knockout HEK293 Cell Line | EDJ-KQ15436 | Human | 64429 | Details Get a Quote |
| ZDHHC6 Knockout A-549 Cell Line | EDJ-KQ47456 | Human | 64429 | Details Get a Quote |
| ZDHHC6 Knockout HCT 116 Cell Line | EDJ-KQ47458 | Human | 64429 | Details Get a Quote |
| ZDHHC6 Knockout HeLa Cell Line | EDJ-KQ47459 | Human | 64429 | Details Get a Quote |
